A table in a recently published paper tells the story of 30 families who have, sometimes after years of searching, finally received an answer about the condition that has plagued one or more family members. The Brigham Genomic ...
Sep 17, 2018
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A research team led by the German Cancer Research Center in Heidelberg, Germany, has discovered that the genetic sequence of a tumor can be read like a molecular clock, traced back to its most recent common ancestor cell. ...
Reports show that cancer is the second leading cause of death globally. Scientists from Duke-NUS Medical School have found DNA mutations in some cancers that link them to a bacterial toxin called colibactin. Their findings, ...
Jul 27, 2020
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By sequencing known genes associated with cardiac arrhythmia risk in more than 20,000 people without an indication for genetic testing, scientists were able to identify pathogenic and likely pathogenic variants in nearly ...
Feb 10, 2022
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Today investigators at Children's Mercy Hospitals and Clinics in Kansas City reported the first use of whole genome information for diagnosing critically ill infants. As reported in Science Translational Medicine, the team ...
Oct 3, 2012
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Researchers have analyzed image and genomic data from the UK Biobank to find insights into rare diseases of the human eye. These include retinal dystrophies—a group of inherited disorders affecting the retina—which are ...
Mar 9, 2023
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"Bad" cholesterol isn't the only culprit linked with a higher risk of cardiovascular disease, according to a trio of recent University of Alberta studies—including landmark global research—showing that a different kind ...
Oct 16, 2023
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All cells have their own power plants, called mitochondria. There are often more than 100 mitochondria per cell and each possesses their own genome, which in turn contains genes responsible for energy production. If errors ...
Jul 5, 2023
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Scientists who were working on a way to determine the viability of batches of tiny liver organoids have discovered a testing method that may have far broader implications.
Sep 7, 2020
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Scientists from the University of Utah and Omicia, Inc., a privately held company developing tools to interpret personal genome sequences, today announced the publication in Genome Research of a new software tool called VAAST, ...
Jun 23, 2011
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